Welcome to my blog. I have had ALS for 10 years now.

Since I started this blog in June 2008 I've had amazing feedback. Family, friends, people from all over North America, Australia, Scotland, England, and places I can't recall, have commented, encouraged and corresponded. I had no idea when Cynthia taught me how to set this up, how much I would love posting and how many people would read it. I want to say THANK YOU to everyone who has helped propel this therapeutic exercise into a daily routine. All of you, both friends and visitors, are now part of my blog family. Welcome.

From Go Pro

From Go Pro
View from my living room

Tuesday, May 1, 2012

Quest Diagnostics Announces C9orf72 Genetic Test for ALS (Lou Gehrig's Disease) The company's Athena Diagnostics business unit to unveil the new test at the American Academy of Neurology Annual Meeting this week in New Orleans MADISON, N.J. and WORCESTER, Mass., April 25, 2012 /PRNewswire via COMTEX/ -- Quest Diagnostics DGX +1.89% , the world's leading provider of diagnostic testing, information and services, today announced a new genetic testing service from its Athena Diagnostics business unit, a leader in neurology diagnostics, for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. It is the first clinically available testing service for detecting hexanucleotide repeat expansion in the C9orf72 gene. Research published in the April 2012 issue of The Lancet found that this C9orf72 mutation was present in up to 39% of familial (inherited) ALS cases examined, and between 4-8% in sporadic (no known family history) cases, in a multi-national study population. The test is offered to aid in the diagnosis of familial and sporadic ALS.

1 comment:

Alice said...

karyn - when is the run? i hope you post a picture of yourself at the run :) i'd love to see it! i will go to the link right now and make a donation - hang in there!

kali has been really, really sick! some kind of unknown infection - her white blood cell count and her platelets dropped to "dangerously severe" levels - so i've been dealing with that the past 3-4 weeks. we finally got a good blood test result yesterday, so it looks like we are on the mend here. that would explain why i haven't been online. anyway - it's time to catch up with you now - i hope you have a wonderful weekend!